{"orpha":88642,"name":"Congenital insensitivity to pain-anosmia-neuropathic arthropathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SCN9A-related congenital insensitivity to pain"],"definition":"A rare genetic peripheral neuropathy characterized by complete congenital insensitivity to painful stimuli, commonly associated with neuropathic arthropathy. In addition, patients are typically anosmic.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-88642/","orphanet_url":"https://www.orpha.net/en/disease/detail/88642","names":{"fr":{"name":"Insensibilité congénitale à la douleur-anosmie-arthropathie neuropathique","synonyms":["Insensibilité congénitale à la douleur associée à SCN9A"],"definition":"Neuropathie périphérique génétique rare caractérisée par une insensibilité congénitale complète aux stimuli douloureux, généralement associée à une arthropathie neuropathique. Par ailleurs, les patients sont typiquement anosmiques."},"de":{"name":"Kongenitale Schmerzunempfindlichkeit mit Anosmie und neuropathischer Arthropathie","synonyms":["Schmerzunempfindlichkeit, kongenitale, SCN9A-Gen-assoziierte"],"definition":"Eine seltene genetisch bedingte periphere Neuropathie, die durch eine vollständige angeborene Unempfindlichkeit gegenüber schmerzhaften Reizen gekennzeichnet ist und häufig mit neuropathischer Arthropathie einhergeht. Die Patienten sind in der Regel anosmisch."},"es":{"name":"Insensibilidad congénita al dolor-anosmia-artropatía neuropática","synonyms":["Insensibilidad congénita al dolor asociada a SCN9A"],"definition":"Es una neuropatía periférica poco frecuente de origen genético caracterizada por una insensibilidad congénita completa a los estímulos dolorosos, comúnmente asociada a artropatía neuropática. Además, los pacientes suelen ser anósmicos."},"it":{"name":"Insensibilità congenita al dolore, anosmia e artropatia neuropatica","synonyms":["Insensibilità congenita al dolore correlata a SCN9A"]},"nl":{"name":"Congenitale ongevoeligheid voor pijn - anosmie - neuropathische artropathie","synonyms":["SCN9A-gerelateerde congenitale ongevoeligheid voor pijn"],"definition":"Een zeldzame genetische perifere neuropathie, gekenmerkt door volledige congenitale ongevoeligheid voor pijnlijke stimuli, doorgaans geassocieerd met neuropathische artropathie. Daarnaast lijden patiënten veelal aan anosmie."},"pt":{"name":"Insensibilidade congénita à dor-anosmia-artropatia neuropática","synonyms":["Insensibilidade congénita à dor SCN9A-relacionada"],"definition":"Neuropatia periférica genética rara caracterizada por insensibilidade completa congénita a estímulos dolorosos, comummente associada a artropatia neuropática. Além disso, os doentes são tipicamente anósmicos."},"pl":{"name":"Kanałopatia z towarzyszącym wrodzonym brakiem wrażliwości na ból","synonyms":["Kanałopatia z towarzyszącym CIP","Wrodzona niewrażliwość na ból-anosmia-artropatia neuropatyczna"]},"cs":{"name":"Vrozená necitlivost k bolesti, anosmii a neuropatické artropatii","synonyms":["SCN9A-related congenital insensitivity to pain"]},"uk":{"name":"Вроджена нечутливість до болю - аносмія - нейропатична артропатія","synonyms":["Вроджена нечутливість до болю, повязана з SCN9A"],"definition":"A rare genetic peripheral neuropathy characterized by complete congenital insensitivity to painful stimuli, commonly associated with neuropathic arthropathy. In addition, patients are typically anosmic."},"zh":{"name":"离子通道病相关先天性无痛症","synonyms":["离子通道病相关CIP"]},"tr":{"name":"Kanalopati-ilişkili Doğumsal ağrıya duyarsızlık","synonyms":["Kanalopati-ilişkili CIP"]}},"xrefs":[{"source":"OMIM","code":"243000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009459","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"9459","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680180","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12267","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":140477,"name":"Autosomal recessive hereditary sensory and autonomic neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SCN10A","name":"sodium voltage-gated channel alpha subunit 10","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"10582","ensembl":"ENSG00000185313","omim":"604427","loci":["3p22.2"]},{"symbol":"SCN11A","name":"sodium voltage-gated channel alpha subunit 11","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"10583","ensembl":"ENSG00000168356","omim":"604385","loci":["3p22.2"]},{"symbol":"SCN9A","name":"sodium voltage-gated channel alpha subunit 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20529343[PMID]","hgnc":"10597","ensembl":"ENSG00000169432","omim":"603415","loci":["2q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}